Canonical Allele Identifier: CA341559041
Gene: AMPD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109628691C>G , CM000663.2:g.109628691C>G GRCh38
NC_000001.10:g.110171313C>G , CM000663.1:g.110171313C>G GRCh37
NC_000001.9:g.109972836C>G NCBI36
NG_034075.1:g.13879C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000256578.8:c.1456C>G ENSP00000256578.4:p.Arg486Gly
ENST00000358729.9:c.1456C>G ENSP00000351573.5:p.Arg486Gly
ENST00000369840.7:c.1456C>G ENSP00000358855.3:p.Arg486Gly
ENST00000474459.6:n.2075C>G
ENST00000476688.3:c.1138C>G ENSP00000437025.2:p.Arg380Gly
ENST00000486282.7:n.2412C>G
ENST00000524975.2:n.1937C>G
ENST00000525415.2:n.1972C>G
ENST00000526301.6:n.1519C>G
ENST00000527846.7:n.1311C>G
ENST00000528667.7:c.1456C>G MANE Select ENSP00000436541.2:p.Arg486Gly
ENST00000531203.6:c.1264C>G ENSP00000431975.2:p.Arg422Gly
ENST00000531734.6:c.1375C>G ENSP00000433739.2:p.Arg459Gly
ENST00000652975.2:c.*1208C>G ENSP00000499620.2:n.*1208C>G
ENST00000654851.1:n.1298C>G
ENST00000655992.1:c.1264C>G ENSP00000499740.1:p.Arg422Gly
ENST00000659122.2:c.1407+196C>G ENSP00000499621.2:n.1407+196C>G
ENST00000663749.1:c.*1203C>G ENSP00000499739.1:n.*1203C>G
ENST00000667949.2:c.856C>G ENSP00000499465.2:p.Arg286Gly
ENST00000668421.1:c.*1397C>G ENSP00000499362.1:n.*1397C>G
ENST00000679379.1:c.*1208C>G ENSP00000505528.1:n.*1208C>G
ENST00000679593.1:c.1456C>G ENSP00000505999.1:p.Arg486Gly
ENST00000679880.1:n.1992C>G
ENST00000679892.1:c.*1224C>G ENSP00000504882.1:n.*1224C>G
ENST00000679981.1:c.*1470C>G ENSP00000506422.1:n.*1470C>G
ENST00000680132.1:c.*1406C>G ENSP00000505950.1:n.*1406C>G
ENST00000680148.1:c.*1208C>G ENSP00000505994.1:n.*1208C>G
ENST00000680170.1:n.2321C>G
ENST00000680192.1:n.2414C>G
ENST00000680519.1:n.1692C>G
ENST00000680531.1:c.*1203C>G ENSP00000506332.1:n.*1203C>G
ENST00000680820.1:c.*1208C>G ENSP00000505735.1:n.*1208C>G
ENST00000680832.1:c.*1556C>G ENSP00000505774.1:n.*1556C>G
ENST00000680929.1:c.*1145C>G ENSP00000504916.1:n.*1145C>G
ENST00000681108.1:c.*1245+196C>G ENSP00000506701.1:n.*1245+196C>G
ENST00000681121.1:c.*566C>G ENSP00000506466.1:n.*566C>G
ENST00000681132.1:c.*1222C>G ENSP00000506195.1:n.*1222C>G
ENST00000681181.1:c.*1441C>G ENSP00000506038.1:n.*1441C>G
ENST00000681218.1:c.*1729C>G ENSP00000505976.1:n.*1729C>G
ENST00000681246.1:c.*1112C>G ENSP00000505534.1:n.*1112C>G
ENST00000681496.1:c.*1729C>G ENSP00000505948.1:n.*1729C>G
ENST00000681834.1:n.1795C>G
ENST00000681862.1:c.*1582C>G ENSP00000505537.1:n.*1582C>G
ENST00000256578.7:c.1618C>G ENSP00000256578.3:p.Arg540Gly
ENST00000342115.8:c.1375C>G ENSP00000345498.4:p.Arg459Gly
ENST00000358729.8:c.1393C>G ENSP00000351573.4:p.Arg465Gly
ENST00000369840.6:c.1529C>G
ENST00000393688.7:c.1261C>G ENSP00000377292.3:p.Arg421Gly
ENST00000526301.5:n.1657C>G
ENST00000528454.5:c.1264C>G ENSP00000437164.1:p.Arg422Gly
ENST00000528667.5:c.1618C>G ENSP00000436541.1:p.Arg540Gly
ENST00000532851.1:n.166C>G
ENST00000533132.1:n.158C>G
NM_001257360.1:c.1618C>G NP_001244289.1:p.Arg540Gly
NM_001257361.1:c.1264C>G NP_001244290.1:p.Arg422Gly
NM_001308170.1:c.1393C>G NP_001295099.1:p.Arg465Gly
NM_004037.7:c.1618C>G NP_004028.3:p.Arg540Gly
NM_139156.3:c.1375C>G NP_631895.1:p.Arg459Gly
NM_203404.1:c.1261C>G NP_981949.1:p.Arg421Gly
XM_011541247.1:c.1831C>G XP_011539549.1:p.Arg611Gly
XM_011541248.1:c.1782+196C>G XP_011539550.1:n.1782+196C>G
XR_946607.1:n.1854C>G
XM_024446431.1:c.1393C>G XP_024302199.1:p.Arg465Gly
XM_024446432.1:c.1430+196C>G XP_024302200.1:n.1430+196C>G
XR_002956282.1:n.2029C>G
NM_001257360.2:c.1618C>G NP_001244289.1:p.Arg540Gly
NM_001368809.2:c.1456C>G MANE Select NP_001355738.1:p.Arg486Gly
NM_004037.9:c.1456C>G NP_004028.4:p.Arg486Gly
NM_001257361.2:c.1264C>G NP_001244290.1:p.Arg422Gly
NM_139156.4:c.1375C>G NP_631895.1:p.Arg459Gly